The Clinical Presentation and Diagnosis of Primary Cardiac Amyloidosis

Amber L. Jarvie, Jason Waechter, Lise Matzke, Michael Allard, Carol-Ann Courneya. UBCMJ 2011 2(2):38-41.
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A 67-year-old woman presented to her family physician with a five month history of progressing shortness of breath and fatigue. The patient was referred to cardiology who saw her two weeks later. An echocardiogram revealed normal biventricular systolic function, pulmonary hypertension, and mild tricuspid regurgitation. Clinically, the patient had bilateral pedal edema, evidence of pleural effusion, and an elevated jugular venous pressure (JVP). Five weeks later she was admitted to hospital for further testing as there was a marked change in her condition. In hospital, a series of investigations were performed, including a pulmonary angiogram, thoracentesis, chest computed tomography (CT), venous Doppler of lower extremities, and an endomyocardial biopsy. The endomyocardial biopsy demonstrated interstitial and vascular positivity for amyloid. The patient was diagnosed with systemic primary (AL) amyloidosis with cardiac involvement. Primary amyloidosis results from an accumulation of immunoglobulin light chains due to a clonal B cell disorder such as multiple myeloma. Patients with primary amyloidosis, with heart involvement, progress rapidly and have a median survival of six months. The signs and symptoms of congestive heart failure (CHF) can be recognized with ease; however, establishing the underlying cause can be more difficult. Determination of the underlying cause of heart failure is essential as it will influence the management of the patient. Early intervention can have a significant impact on the patient’s response to treatment, especially when the underlying condition involves a malignancy or infiltrative disorder.
KEYWORDS: primary amyloidosis, cardiac involvement, shortness of breath, fatigue, congestive heart failure, comfort care